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Results 1 - 6 of 6 for "Bardet-Biedl" syndrome 17
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  1. Bardet-Biedl syndrome 
    ... Canada), where it affects an estimated 1 in 17,000 newborns. It also occurs more frequently in the Bedouin population of Kuwait, affecting about 1 in 13,500 newborns. Bardet-Biedl syndrome can result from mutations in at least 14 ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  2. NPHP1 gene 
    ... at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 1;94(5):745-54. doi: 10.1016/j.ajhg.2014.03.017. Epub 2014 Apr 17. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  3. MKKS gene 
    ... chaperonins in human disease. Trends Genet. 2001 Sep;17(9):528-35. doi: ... and selected Bardet-Biedl syndrome patients. Hum Genet. 2002 Jun;110(6): ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  4. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    What is Bardet Biedl Syndrome? Learn about the signs and symptoms of the complex disorder Bardet Biedl Syndrome, as well as how to live with the ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  5. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Usher Syndrome/Learn More ... Usher Syndrome ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  6. Choroideremia (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Eye Diseases/Specifics ... Eye Diseases ... Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs ...
    https://www.fightingblindness.org/diseases/choroideremia - External Health Links